Objectives: Several genome-wide scans recently accomplished in the ethnic Chinese revealed a number of candidate loci possibly contributing to essential hypertension, and some appeared to be replicable in 2q14-q23 and 5q32. The current study aimed to examine the linkage of qualitative and blood pressure quantitative traits in essential hypertension with these genomic regions in a large sample of Chinese hypertensive families.
Methods: We performed a genetic analysis on 148 randomly ascertained families containing 328 affected sib pairs, grouped into two geographically distinct subsets. Five highly informative microsatellite markers (D2S151, D2S142, D5S2090, D5S413 and D5S2013) were genotyped, and linkage analyses were performed with different genetic models.
Results: We did not observe consistent evidence for excess allele sharing identity by descent in either of the qualitative or the quantitative test. However, higher LOD scores were found at D5S2013 in North Group subset with Haseman-Elston and maximum likelihood (ML) variance (no dominance variance, NDV) algorithms. With the ML (NDV) algorithm, the LOD was 1.410 for diastolic blood pressure at this locus, although this was not statistically significant.
Conclusions: These findings provide no evidence to support a significant linkage of 2q14-q23 or 5q32 with essential hypertension or blood pressure quantitative traits in the ethnic Chinese, and indicate the aetiologic diversity and complexity of hypertension. Previous reports implied 2q14-q23 or beta 2- adrenergic receptor gene potentially linked to essential hypertension in the ethnic Chinese. To replicate these results and perform quantitative linkage analysis, we genotyped members of 148 hypertensive families with five highly informative microsatellite markers. We observed no evidence of excess allele sharing identity by descent in sib pairs, revealing a lack of linkage between 2q14-q23 or 5q32 (chromosome region harboring the gene encoding beta 2 adrenergic receptor) and hypertension in our study sample.